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Article

Chiari malformation type I: a case-control association study of 58 developmental genes.

PloS one - 1 Jan 2013

Urbizu Aintzane, Toma Claudio, Poca Maria A, Sahuquillo Juan, Cuenca-León Ester, Cormand Bru, Macaya Alfons

Abstract excerpt

Chiari malformation type I (CMI) is a disorder characterized by hindbrain overcrowding into an underdeveloped posterior cranial fossa (PCF), often causing progressive neurological symptoms. The etiology of CMI remains unclear and is most likely multifactorial. A putative genetic contribution to CMI is suggested by familial aggregation and twin studies. Experimental models and human morphometric studies have...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23437350
DOI: 10.1371/journal.pone.0057241
PMCID: PMC3578784

Genes

CDX1
FLT1
FGF8
FGFR1
KDR
LFNG
MSGN1
NKD2
NOG
RARA
RARG
RDH10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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